{"id":"https://openalex.org/W7052590841","doi":null,"title":"The role of Ube3a in neuronal development","display_name":"The role of Ube3a in neuronal development","publication_year":2021,"publication_date":"2021-12-09","ids":{"openalex":"https://openalex.org/W7052590841"},"language":"en","primary_location":{"id":"pmh:oai:ria.ua.pt:10773/33367","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10773/33367","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"master thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10773/33367","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Resende, Carlos Manuel dos Santos","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Resende, Carlos Manuel dos Santos","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.5536999702453613,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.5536999702453613,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10077","display_name":"Neuroscience and Neuropharmacology Research","score":0.3815999925136566,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11041","display_name":"Ubiquitin and proteasome pathways","score":0.01140000019222498,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ube3a","display_name":"UBE3A","score":1.0},{"id":"https://openalex.org/keywords/angelman-syndrome","display_name":"Angelman syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/neuronal-development","display_name":"neuronal development","score":0.8159999847412109},{"id":"https://openalex.org/keywords/excitatory-synapse-formation","display_name":"excitatory synapse formation","score":0.9190000295639038},{"id":"https://openalex.org/keywords/synaptic-maturation","display_name":"synapse maturation","score":0.9300000071525574},{"id":"https://openalex.org/keywords/e3-ubiquitin-ligase","display_name":"E3 ubiquitin ligase","score":0.9110000133514404},{"id":"https://openalex.org/keywords/hippocampal-neurons","display_name":"hippocampal neurons","score":0.9629999995231628},{"id":"https://openalex.org/keywords/synaptic-plasticity","display_name":"synaptic plasticity","score":0.675000011920929},{"id":"https://openalex.org/keywords/neuronal-excitability","display_name":"neuronal excitability","score":0.6800000071525574},{"id":"https://openalex.org/keywords/paternal-imprinting","display_name":"paternal imprinting","score":0.5690000057220459},{"id":"https://openalex.org/keywords/subcellular-localization","display_name":"subcellular localization","score":0.6690000295639038}],"concepts":[{"id":"https://openalex.org/C2777041782","wikidata":"https://www.wikidata.org/wiki/Q14878336","display_name":"UBE3A","level":5,"score":0.9836999773979187},{"id":"https://openalex.org/C2778691456","wikidata":"https://www.wikidata.org/wiki/Q535364","display_name":"Angelman syndrome","level":3,"score":0.8251000046730042},{"id":"https://openalex.org/C127445978","wikidata":"https://www.wikidata.org/wiki/Q187181","display_name":"Synapse","level":2,"score":0.7077000141143799},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.6578999757766724},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6118999719619751},{"id":"https://openalex.org/C112592302","wikidata":"https://www.wikidata.org/wiki/Q1207387","display_name":"Excitatory postsynaptic potential","level":3,"score":0.5853000283241272},{"id":"https://openalex.org/C148762608","wikidata":"https://www.wikidata.org/wiki/Q3748185","display_name":"Hippocampal formation","level":2,"score":0.5697000026702881},{"id":"https://openalex.org/C134459356","wikidata":"https://www.wikidata.org/wiki/Q4274835","display_name":"Ubiquitin ligase","level":4,"score":0.5404999852180481},{"id":"https://openalex.org/C2781161787","wikidata":"https://www.wikidata.org/wiki/Q48360","display_name":"Hippocampus","level":2,"score":0.47609999775886536},{"id":"https://openalex.org/C99223954","wikidata":"https://www.wikidata.org/wiki/Q5419646","display_name":"Excitatory synapse","level":4,"score":0.46059998869895935},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4309999942779541},{"id":"https://openalex.org/C25602115","wikidata":"https://www.wikidata.org/wiki/Q407111","display_name":"Ubiquitin","level":3,"score":0.41519999504089355},{"id":"https://openalex.org/C74254510","wikidata":"https://www.wikidata.org/wiki/Q7240508","display_name":"Premovement neuronal activity","level":2,"score":0.3970000147819519},{"id":"https://openalex.org/C200170125","wikidata":"https://www.wikidata.org/wiki/Q969316","display_name":"Neurotransmission","level":3,"score":0.3937000036239624},{"id":"https://openalex.org/C61174792","wikidata":"https://www.wikidata.org/wiki/Q420510","display_name":"Glutamate receptor","level":3,"score":0.38429999351501465},{"id":"https://openalex.org/C17077164","wikidata":"https://www.wikidata.org/wiki/Q1185869","display_name":"Inhibitory postsynaptic potential","level":2,"score":0.3758000135421753},{"id":"https://openalex.org/C67018056","wikidata":"https://www.wikidata.org/wiki/Q414896","display_name":"NMDA receptor","level":3,"score":0.33320000767707825},{"id":"https://openalex.org/C4746552","wikidata":"https://www.wikidata.org/wiki/Q1456827","display_name":"Neurogenesis","level":2,"score":0.2989000082015991},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.29829999804496765},{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.2842999994754791},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.2808000147342682},{"id":"https://openalex.org/C154559735","wikidata":"https://www.wikidata.org/wiki/Q7514768","display_name":"Silent synapse","level":5,"score":0.27469998598098755},{"id":"https://openalex.org/C2778794669","wikidata":"https://www.wikidata.org/wiki/Q43054","display_name":"Neuron","level":2,"score":0.2700999975204468},{"id":"https://openalex.org/C197341189","wikidata":"https://www.wikidata.org/wiki/Q863533","display_name":"Postsynaptic potential","level":3,"score":0.2669000029563904},{"id":"https://openalex.org/C27740335","wikidata":"https://www.wikidata.org/wiki/Q14878333","display_name":"Proteasome","level":2,"score":0.26499998569488525},{"id":"https://openalex.org/C174884520","wikidata":"https://www.wikidata.org/wiki/Q902079","display_name":"Dendritic spine","level":3,"score":0.25769999623298645}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:ria.ua.pt:10773/33367","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10773/33367","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"master thesis"}],"best_oa_location":{"id":"pmh:oai:ria.ua.pt:10773/33367","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10773/33367","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"master thesis"},"sustainable_development_goals":[{"score":0.6240000128746033,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7027106926","https://openalex.org/W2024386053","https://openalex.org/W13485040","https://openalex.org/W7131338918","https://openalex.org/W7131338616","https://openalex.org/W7100405788","https://openalex.org/W7141690539","https://openalex.org/W115329677","https://openalex.org/W2054571451","https://openalex.org/W2143860178"],"abstract_inverted_index":{"Angelman":[0,272],"syndrome":[1],"(AS)":[2],"is":[3,49,104,110,127,142,170,182,197,249],"a":[4,151,213,226,261],"genetic":[5],"disorder":[6],"characterized":[7],"by":[8,112,212],"paternal":[9],"imprinting":[10],"and":[11,35,44,64,97,115,140,162,188,240],"maternal":[12],"deletion":[13],"of":[14,22,24,29,46,57,67,74,82,94,121,154,160,178,204,209,219,230,264],"Ube3a.":[15],"Therefore":[16],"AS":[17,37,102],"patients":[18,38,103,270],"have":[19,39],"reduced":[20],"levels":[21,174],"expression":[23,156],"Ube3a":[25,48,84,96,108,131,134,155,169,196,231,246],"in":[26,89,101,136,157,185,200,206,215,232,269],"several":[27,83,158],"regions":[28,159],"the":[30,33,55,61,65,80,90,92,98,176,186,190,201,216,265],"brain":[31],"including":[32],"hippocampus":[34],"cerebellum.":[36],"motor":[40],"impairment,":[41],"mental":[42],"retardation":[43],"absence":[45],"speech.":[47],"an":[50],"E3":[51],"ligase":[52],"responsible":[53],"for":[54,251],"ubiquitination":[56],"protein":[58],"leading":[59],"to":[60,129,260],"proteasomal":[62],"degradation":[63],"lack":[66],"function":[68,248],"as":[69],"been":[70,79],"associated":[71],"with":[72,86,271],"loss":[73],"synaptic":[75,113],"plasticity.":[76],"Although":[77],"there\u2019s":[78],"identification":[81],"substrates":[85],"important":[87,128],"role":[88,93,135],"postsynapse":[91],"presynaptic":[95,202],"symptoms":[99],"found":[100,268],"still":[105,143],"not":[106,144],"clear.":[107,145],"transcription":[109],"induced":[111],"activity":[114],"glutamate":[116],"release":[117],"during":[118],"early":[119,207],"stages":[120,208,218],"development,":[122],"indicating":[123],"that":[124,168,195,224,245],"neuronal":[125],"excitability":[126],"regulate":[130],"activity.":[132],"Nonetheless,":[133],"excitatory":[137,253],"synapse":[138,238,254],"formation":[139,239],"maturation":[141],"In":[146],"this":[147],"work":[148],"we":[149,222],"did":[150],"subcellular":[152],"characterization":[153],"Rat":[161],"Mouse":[163],"hippocampal":[164,179,235],"neurons.":[165],"We":[166],"observed":[167],"expressed":[171,199],"at":[172],"high":[173],"within":[175],"nucleus":[177],"neurons":[180,205,236],"but":[181],"also":[183],"present":[184],"cytoplasm":[187],"along":[189],"axon.":[191],"Our":[192,242],"results":[193],"show":[194,223],"highly":[198],"compartments":[203],"development":[210],"followed":[211],"decrease":[214],"later":[217],"development.":[220],"Furthermore,":[221],"expressing":[225],"catalytic":[227,247],"inactive":[228],"form":[229],"rat":[233],"embryonic":[234],"disrupts":[237],"maturation.":[241],"data":[243,258],"suggests":[244],"necessary":[250],"promoting":[252],"formation.":[255],"Collectively,":[256],"these":[257],"contributes":[259],"deeper":[262],"understanding":[263],"cognitive":[266],"alterations":[267],"Syndrome.":[273]},"counts_by_year":[],"updated_date":"2026-03-04T07:09:34.246503","created_date":"2025-10-10T00:00:00"}